Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.P298delFs
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PEX12

NM_000286.3:p.P298delFs

Associated Papers

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

Bhoj EJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."